リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)	MSH6	Pathogenic	2	48033738	48033747	ACATAGAAAAG	A	criteria provided, single submitter	ClinGen:CA658655770
Deletion	NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)	MSH6	Pathogenic	2	48033730	48033742	CAAAAGGGACATAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795759
Duplication	NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)	MSH6	Pathogenic/Likely pathogenic	2	48033727	48033728	T	TTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA014773
Duplication	NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	MSH6	Pathogenic	2	48033727	48033728	T	TTCAAAAGGGACATAGAAAA	reviewed by expert panel	ClinGen:CA014825
Duplication	NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)	MSH6	Pathogenic/Likely pathogenic	2	48033726	48033727	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA072328
Duplication	NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)	MSH6	Pathogenic	2	48033725	48033726	T	TATTC	reviewed by expert panel	ClinGen:CA014784
Deletion	NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)	MSH6	Pathogenic/Likely pathogenic	2	48033724	48033739	GTTATTCAAAAGGGACA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683259
Duplication	NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)	MSH6	Pathogenic	2	48033723	48033724	G	GTTATTCAAAAGGGACATAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369300
Duplication	NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)	MSH6	Pathogenic	2	48033721	48033722	A	AAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617715
Duplication	NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)	MSH6	Pathogenic	2	48033720	48033721	G	GAAGT	reviewed by expert panel	ClinGen:CA014731